The Children’s Hospital of Philadelphia Research Institute is a big place, with a staff in the thousands working every day to improve the health of children. As such, CHOP Research is the source of a lot of big stories, about big advances against big diseases. But CHOP Research is also a place where individuals quietly work on their own to better children’s lives, often volunteering their time.

Genetics researchers at The Children’s Hospital of Philadelphia have found 25 “high impact” gene variants that occur in some patients with autism. Although rare individually, each genetic variant has a strong effect in raising a person’s autism risk. These findings could be incorporated into clinical tests for evaluating children for autism spectrum disorders.

By underscoring the importance of standardized childhood developmental screening and communication between clinicians and caregivers, two new studies from CHOP’s PolicyLab can help physicians and families better support children with developmental disorders.

CHOP’s Center for Autism Research produced a number of breakthrough studies in 2012, two of which were recently highlighted by the scientific community. The advocacy organization Autism Speaks selected a Center for Autism Research study as one of its top discoveries of 2012, while another study, published in Trends in Cognitive Science, was one of the five most popular articles published in that journal in 2012.

After a closely contested race for votes between The Children’s Hospital of Philadelphia and several other children’s hospitals, CHOP’s Center for Fetal Diagnosis and Treatment was recently awarded a $10,000 grant by CHERUBS, the Congenital Diaphragmatic Hernia Research Awareness and Support Advocacy Organization.

Let’s face it: we live in the future. At no point in human history has so much information been so accessible to so many people. The rise of the personal computer, then the internet, and then smartphones that (in addition to functioning as phones) can browse the internet from anywhere, means that more people than ever have access to more information than they could ever need.

Canavan disease is a rare inherited neurological disorder with devastating effect. The lack of a specific enzyme, called aspartoacylase, causes the body’s central nervous system to break down. The disease is usually fatal before a child reaches the teenage years.

A study of physicians’ knowledge of and attitudes toward concussion management practices points to the need for improved concussion-specific training and infrastructure to support optimal patient care. The findings, recently published online in Pediatrics, led The Children’s Hospital of Philadelphia (CHOP) to create a new “medical home” model for managing adolescent and pediatric concussion.